MCID: INT224
MIFTS: 25

Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital

Categories: Genetic diseases, Nephrological diseases, Respiratory diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

MalaCards integrated aliases for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

Name: Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 57 75 29 13 6
Ilneb 57 75
Congenital Interstitial Lung Disease-Nephrotic Syndrome-Epidermolysis Bullosa Syndrome 59
Congenital Nephrotic Syndrome-Interstitial Lung Disease-Epidermolysis Bullosa Syndrome 59
Lung Disease, Interstitial, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 40
Congenital Nephrotic Syndrome-Epidermolysis Bullosa-Pulmonary Disease Syndrome 59
Junctional Epidermolysis Bullosa with Respiratory and Renal Involvement 59
Jeb with Respiratory and Renal Involvement 59
Congenital Ilneb Syndrome 59
Congenital Nep Syndrome 59
Jeb-Rr 59

Characteristics:

Orphanet epidemiological data:

59
junctional epidermolysis bullosa with respiratory and renal involvement
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
four unrelated patients reported (last curated august 2015)
patients die in infancy due to infectious complications


HPO:

32
interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

OMIM : 57 Mutations in the integrin alpha-3 gene are associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. Patients exhibit a multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease (summary by Has et al., 2012). (614748)

MalaCards based summary : Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital, is also known as ilneb. An important gene associated with Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital is ITGA3 (Integrin Subunit Alpha 3). Affiliated tissues include lung, skin and kidney, and related phenotypes are hypertelorism and macrotia

UniProtKB/Swiss-Prot : 75 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital: A multiorgan disorder characterized by congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The respiratory and renal features predominate, and lung involvement accounts for the lethal course of the disease.

Related Diseases for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Symptoms & Phenotypes for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
sparse eyelashes
sparse eyebrows
fine eyebrows
antimongoloid slant

Head And Neck Head:
microcephaly

Head And Neck Face:
prominent forehead
round face
retrognathism

Skin Nails Hair Hair:
sparse scalp hair
fine hair
sparse eyelashes
sparse eyebrows

Laboratory Abnormalities:
hypoalbuminemia
respiratory acidosis
proteinuria (seen in all patients)
decreased glomerular filtration rate (seen in all patients)

Skin Nails Hair Skin:
fragile skin
blisters and erosions after mechanical manipulation
residual erythema after healing

Skin Nails Hair Nails:
dystrophic nails
distal onycholysis following minor trauma

Head And Neck Nose:
prominent nose with long saddle

Skeletal Feet:
deep furrows of soles

Skin Nails Hair Skin Electron Microscopy:
basement membrane abnormalities
thin lamina densa
discontinuities between hemidesmosomes

Neurologic Central Nervous System:
mild muscular hypotonia
delayed neurologic development
normal psychosocial and cognitive development

Respiratory Lung:
recurrent respiratory infections
interstitial lung disease (seen in all patients)
respiratory distress, neonatal (seen in all patients)

Skeletal Skull:
microcephaly

Chest External Features:
narrow chest

Chest Breasts:
gynecomastia

Genitourinary Kidneys:
tubular atrophy
focal segmental glomerulosclerosis
renal failure
nephrotic syndrome, congenital (seen in all patients)
diffuse interstitial fibrosis
more
Head And Neck Mouth:
small mouth

Head And Neck Ears:
large ears

Skeletal Hands:
clinodactyly, discrete

Skin Nails Hair Skin Histology:
flat epidermis without rete ridges
subepidermal blisters
focal disruption of dermal-epidermal junction, with cleavage within the basement membrane

Muscle Soft Tissue:
mild muscular hypotonia

Voice:
shrill cry


Clinical features from OMIM:

614748

Human phenotypes related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

32 (show all 27)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 macrotia 32 HP:0000400
3 recurrent respiratory infections 32 very rare (1%) HP:0002205
4 microcephaly 32 HP:0000252
5 renal insufficiency 32 HP:0000083
6 proteinuria 32 HP:0000093
7 prominent forehead 32 HP:0011220
8 nail dystrophy 32 very rare (1%) HP:0008404
9 abnormal blistering of the skin 32 very rare (1%) HP:0008066
10 narrow chest 32 HP:0000774
11 respiratory distress 32 very rare (1%) HP:0002098
12 nephrotic syndrome 32 very rare (1%) HP:0000100
13 narrow mouth 32 HP:0000160
14 round face 32 HP:0000311
15 sparse scalp hair 32 HP:0002209
16 fine hair 32 HP:0002213
17 gynecomastia 32 HP:0000771
18 neonatal respiratory distress 32 HP:0002643
19 sparse eyelashes 32 HP:0000653
20 interstitial pulmonary abnormality 32 very rare (1%) HP:0006530
21 hypoalbuminemia 32 HP:0003073
22 respiratory acidosis 32 HP:0005972
23 tubular atrophy 32 HP:0000092
24 focal segmental glomerulosclerosis 32 very rare (1%) HP:0000097
25 decreased glomerular filtration rate 32 HP:0012213
26 fragile skin 32 HP:0001030
27 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Search Clinical Trials , NIH Clinical Center for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital

Genetic Tests for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Genetic tests related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

# Genetic test Affiliating Genes
1 Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital 29 ITGA3

Anatomical Context for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

MalaCards organs/tissues related to Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

41
Lung, Skin, Kidney

Publications for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Variations for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

UniProtKB/Swiss-Prot genetic disease variations for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

75
# Symbol AA change Variation ID SNP ID
1 ITGA3 p.Arg628Pro VAR_068808 rs140781106
2 ITGA3 p.Gly125Arg VAR_077512
3 ITGA3 p.Arg274Gln VAR_077513 rs745505565

ClinVar genetic disease variations for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGA3 ITGA3, 1-BP DEL, NT1173 deletion Pathogenic
2 ITGA3 ITGA3, IVS11AS, G-A, -1 single nucleotide variant Pathogenic
3 ITGA3 NM_002204.3(ITGA3): c.1883G> C (p.Arg628Pro) single nucleotide variant Pathogenic rs140781106 GRCh37 Chromosome 17, 48154006: 48154006
4 ITGA3 NM_002204.3(ITGA3): c.1883G> C (p.Arg628Pro) single nucleotide variant Pathogenic rs140781106 GRCh38 Chromosome 17, 50076642: 50076642
5 ITGA3 NM_002204.3(ITGA3): c.1387C> T (p.Arg463Trp) single nucleotide variant Pathogenic rs797044989 GRCh38 Chromosome 17, 50074452: 50074452
6 ITGA3 NM_002204.3(ITGA3): c.1387C> T (p.Arg463Trp) single nucleotide variant Pathogenic rs797044989 GRCh37 Chromosome 17, 48151816: 48151816
7 ITGA3 NM_002204.3(ITGA3): c.1973C> G (p.Thr658Arg) single nucleotide variant Likely pathogenic rs540704248 GRCh37 Chromosome 17, 48154388: 48154388
8 ITGA3 NM_002204.3(ITGA3): c.1973C> G (p.Thr658Arg) single nucleotide variant Likely pathogenic rs540704248 GRCh38 Chromosome 17, 50077024: 50077024
9 ITGA3 NM_002204.3(ITGA3): c.2070+1G> A single nucleotide variant Pathogenic rs797045048 GRCh37 Chromosome 17, 48154486: 48154486
10 ITGA3 NM_002204.3(ITGA3): c.2070+1G> A single nucleotide variant Pathogenic rs797045048 GRCh38 Chromosome 17, 50077122: 50077122
11 ITGA3 NM_002204.3(ITGA3): c.1469+10T> C single nucleotide variant Benign rs4793639 GRCh38 Chromosome 17, 50074544: 50074544
12 ITGA3 NM_002204.3(ITGA3): c.1469+10T> C single nucleotide variant Benign rs4793639 GRCh37 Chromosome 17, 48151908: 48151908

Expression for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Search GEO for disease gene expression data for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa, Congenital.

Pathways for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

GO Terms for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

Sources for Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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